Abstract:Background: Familial hypocalciuric hypercalcemia (FHH) type 1 is caused by inactivating pathogenic variants in the calcium sensing receptor (CASR) gene and clinically presents with serum hypercalcemia, low urine calcium excretion, and inappropriately normal PTH response. In a minority of patients with CASR-negative FHH (up to 26%), variants in AP2S1 are linked to FHH type 3. Similarly, inactivating pathogenic variants in the GNA11 gene have been shown to cause FHH type 2 in up to 10% of CASR and AP2S1 negative… Show more
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